ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476784 SCV004201396 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2023-09-06 criteria provided, single submitter clinical testing
Invitae RCV003649459 SCV004501372 pathogenic Peroxisome biogenesis disorder, complementation group 7 2023-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg142Trpfs*18) in the PEX10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PEX10 are known to be pathogenic (PMID: 9683594, 10862081, 21031596).

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